MCID: FRC005
MIFTS: 24

Fructosuria, Essential

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Fructosuria, Essential

MalaCards integrated aliases for Fructosuria, Essential:

Name: Fructosuria, Essential 57 29 6 40
Fructosuria 57 76 53 75
Ketohexokinase Deficiency 57 53 59
Hepatic Fructokinase Deficiency 57 53
Essential Benign Fructosuria 53
Deficiency of Fructokinase 73
Fructokinase Deficiency 59
Essential Fructosuria 59
Ketohexokinase 13
Fruct 75

Characteristics:

Orphanet epidemiological data:

59
essential fructosuria
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
benign, asymptomatic defect


HPO:

32
fructosuria, essential:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 229800
Orphanet 59 ORPHA2056
MESH via Orphanet 45 C538068
ICD10 via Orphanet 34 E74.1
UMLS via Orphanet 74 C0268160
MedGen 42 C0268160
SNOMED-CT via HPO 69 258211005
UMLS 73 C0268160

Summaries for Fructosuria, Essential

OMIM : 57 Essential fructosuria is a benign, asymptomatic defect of intermediary metabolism characterized by the intermittent appearance of fructose in the urine (summary by Bonthron et al., 1994). (229800)

MalaCards based summary : Fructosuria, Essential, also known as fructosuria, is related to fructose intolerance, hereditary and renal cell carcinoma, nonpapillary. An important gene associated with Fructosuria, Essential is KHK (Ketohexokinase). Affiliated tissues include liver, and related phenotypes are impairment of fructose metabolism and Strongly decreased CFP-tsO45G cell surface transport

UniProtKB/Swiss-Prot : 75 Fructosuria: Benign defect of intermediary metabolism.

Wikipedia : 76 Essential fructosuria, caused by a deficiency of the enzyme hepatic fructokinase, is a clinically benign... more...

Related Diseases for Fructosuria, Essential

Diseases related to Fructosuria, Essential via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fructose intolerance, hereditary 10.0
2 renal cell carcinoma, nonpapillary 10.0
3 polycystic kidney disease 10.0
4 hepatitis 9.9

Symptoms & Phenotypes for Fructosuria, Essential

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
fructosuria


Clinical features from OMIM:

229800

Human phenotypes related to Fructosuria, Essential:

32
# Description HPO Frequency HPO Source Accession
1 impairment of fructose metabolism 32 HP:0011033

GenomeRNAi Phenotypes related to Fructosuria, Essential according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Strongly decreased CFP-tsO45G cell surface transport GR00360-A-2 8.62 EMILIN1 KHK

Drugs & Therapeutics for Fructosuria, Essential

Search Clinical Trials , NIH Clinical Center for Fructosuria, Essential

Genetic Tests for Fructosuria, Essential

Genetic tests related to Fructosuria, Essential:

# Genetic test Affiliating Genes
1 Fructosuria, Essential 29 KHK

Anatomical Context for Fructosuria, Essential

MalaCards organs/tissues related to Fructosuria, Essential:

41
Liver

Publications for Fructosuria, Essential

Articles related to Fructosuria, Essential:

# Title Authors Year
1
[Essential fructosuria (hepatic fructokinase deficiency)]. ( 9589995 )
1998

Variations for Fructosuria, Essential

UniProtKB/Swiss-Prot genetic disease variations for Fructosuria, Essential:

75
# Symbol AA change Variation ID SNP ID
1 KHK p.Gly40Arg VAR_006072 rs104893643
2 KHK p.Ala43Thr VAR_006073 rs104893644

ClinVar genetic disease variations for Fructosuria, Essential:

6
(show top 50) (show all 94)
# Gene Variation Type Significance SNP ID Assembly Location
1 KHK NM_000221.2(KHK): c.-449T> G single nucleotide variant Likely benign rs116028777 GRCh37 Chromosome 2, 27309679: 27309679
2 KHK NM_000221.2(KHK): c.-449T> G single nucleotide variant Likely benign rs116028777 GRCh38 Chromosome 2, 27086811: 27086811
3 KHK NM_000221.2(KHK): c.-15T> G single nucleotide variant Uncertain significance rs763655731 GRCh37 Chromosome 2, 27310113: 27310113
4 KHK NM_000221.2(KHK): c.-15T> G single nucleotide variant Uncertain significance rs763655731 GRCh38 Chromosome 2, 27087245: 27087245
5 KHK NM_000221.2(KHK): c.473C> A (p.Thr158Asn) single nucleotide variant Uncertain significance rs773003580 GRCh37 Chromosome 2, 27320426: 27320426
6 KHK NM_000221.2(KHK): c.473C> A (p.Thr158Asn) single nucleotide variant Uncertain significance rs773003580 GRCh38 Chromosome 2, 27097558: 27097558
7 KHK NM_000221.2(KHK): c.499C> T (p.Arg167Trp) single nucleotide variant Uncertain significance rs886055887 GRCh37 Chromosome 2, 27320452: 27320452
8 KHK NM_000221.2(KHK): c.499C> T (p.Arg167Trp) single nucleotide variant Uncertain significance rs886055887 GRCh38 Chromosome 2, 27097584: 27097584
9 KHK NM_000221.2(KHK): c.500G> A (p.Arg167Gln) single nucleotide variant Uncertain significance rs201707861 GRCh38 Chromosome 2, 27097585: 27097585
10 KHK NM_000221.2(KHK): c.500G> A (p.Arg167Gln) single nucleotide variant Uncertain significance rs201707861 GRCh37 Chromosome 2, 27320453: 27320453
11 KHK NM_000221.2(KHK): c.643G> C (p.Val215Leu) single nucleotide variant Uncertain significance rs886055889 GRCh38 Chromosome 2, 27099274: 27099274
12 KHK NM_000221.2(KHK): c.557G> A (p.Gly186Glu) single nucleotide variant Uncertain significance rs886055888 GRCh38 Chromosome 2, 27097642: 27097642
13 KHK NM_000221.2(KHK): c.557G> A (p.Gly186Glu) single nucleotide variant Uncertain significance rs886055888 GRCh37 Chromosome 2, 27320510: 27320510
14 KHK NM_000221.2(KHK): c.643G> C (p.Val215Leu) single nucleotide variant Uncertain significance rs886055889 GRCh37 Chromosome 2, 27322142: 27322142
15 KHK NM_000221.2(KHK): c.*24_*25delAC deletion Likely benign rs886055891 GRCh38 Chromosome 2, 27099774: 27099775
16 KHK NM_000221.2(KHK): c.*24_*25delAC deletion Likely benign rs886055891 GRCh37 Chromosome 2, 27322642: 27322643
17 KHK NM_000221.2(KHK): c.*27A> G single nucleotide variant Uncertain significance rs189674797 GRCh38 Chromosome 2, 27099777: 27099777
18 KHK NM_000221.2(KHK): c.*27A> G single nucleotide variant Uncertain significance rs189674797 GRCh37 Chromosome 2, 27322645: 27322645
19 KHK NM_000221.2(KHK): c.*198A> C single nucleotide variant Uncertain significance rs886055893 GRCh37 Chromosome 2, 27322816: 27322816
20 KHK NM_000221.2(KHK): c.*28T> C single nucleotide variant Uncertain significance rs745543858 GRCh38 Chromosome 2, 27099778: 27099778
21 KHK NM_000221.2(KHK): c.*28T> C single nucleotide variant Uncertain significance rs745543858 GRCh37 Chromosome 2, 27322646: 27322646
22 KHK NM_000221.2(KHK): c.*198A> C single nucleotide variant Uncertain significance rs886055893 GRCh38 Chromosome 2, 27099948: 27099948
23 KHK NM_000221.2(KHK): c.*469G> A single nucleotide variant Uncertain significance rs187387157 GRCh38 Chromosome 2, 27100219: 27100219
24 KHK NM_000221.2(KHK): c.*469G> A single nucleotide variant Uncertain significance rs187387157 GRCh37 Chromosome 2, 27323087: 27323087
25 KHK NM_000221.2(KHK): c.*505G> A single nucleotide variant Uncertain significance rs78939351 GRCh38 Chromosome 2, 27100255: 27100255
26 KHK NM_000221.2(KHK): c.*505G> A single nucleotide variant Uncertain significance rs78939351 GRCh37 Chromosome 2, 27323123: 27323123
27 KHK NM_000221.2(KHK): c.*810A> C single nucleotide variant Uncertain significance rs543665606 GRCh37 Chromosome 2, 27323428: 27323428
28 KHK NM_000221.2(KHK): c.*810A> C single nucleotide variant Uncertain significance rs543665606 GRCh38 Chromosome 2, 27100560: 27100560
29 KHK NM_000221.2(KHK): c.-444C> A single nucleotide variant Likely benign rs116365550 GRCh37 Chromosome 2, 27309684: 27309684
30 KHK NM_000221.2(KHK): c.-444C> A single nucleotide variant Likely benign rs116365550 GRCh38 Chromosome 2, 27086816: 27086816
31 KHK NM_000221.2(KHK): c.-379T> A single nucleotide variant Uncertain significance rs886055883 GRCh37 Chromosome 2, 27309749: 27309749
32 KHK NM_000221.2(KHK): c.-379T> A single nucleotide variant Uncertain significance rs886055883 GRCh38 Chromosome 2, 27086881: 27086881
33 KHK NM_000221.2(KHK): c.-324C> T single nucleotide variant Likely benign rs114973335 GRCh37 Chromosome 2, 27309804: 27309804
34 KHK NM_000221.2(KHK): c.-324C> T single nucleotide variant Likely benign rs114973335 GRCh38 Chromosome 2, 27086936: 27086936
35 KHK NM_000221.2(KHK): c.-245G> A single nucleotide variant Uncertain significance rs192615638 GRCh37 Chromosome 2, 27309883: 27309883
36 KHK NM_000221.2(KHK): c.-245G> A single nucleotide variant Uncertain significance rs192615638 GRCh38 Chromosome 2, 27087015: 27087015
37 KHK NM_000221.2(KHK): c.210-11C> T single nucleotide variant Uncertain significance rs368871098 GRCh37 Chromosome 2, 27317334: 27317334
38 KHK NM_000221.2(KHK): c.210-11C> T single nucleotide variant Uncertain significance rs368871098 GRCh38 Chromosome 2, 27094466: 27094466
39 KHK NM_000221.2(KHK): c.-140G> A single nucleotide variant Uncertain significance rs886055884 GRCh37 Chromosome 2, 27309988: 27309988
40 KHK NM_000221.2(KHK): c.-140G> A single nucleotide variant Uncertain significance rs886055884 GRCh38 Chromosome 2, 27087120: 27087120
41 KHK NM_000221.2(KHK): c.159C> T (p.Leu53=) single nucleotide variant Uncertain significance rs112920456 GRCh37 Chromosome 2, 27315266: 27315266
42 KHK NM_000221.2(KHK): c.159C> T (p.Leu53=) single nucleotide variant Uncertain significance rs112920456 GRCh38 Chromosome 2, 27092398: 27092398
43 KHK NM_000221.2(KHK): c.250C> T (p.Arg84Cys) single nucleotide variant Uncertain significance rs886055886 GRCh37 Chromosome 2, 27317385: 27317385
44 KHK NM_000221.2(KHK): c.250C> T (p.Arg84Cys) single nucleotide variant Uncertain significance rs886055886 GRCh38 Chromosome 2, 27094517: 27094517
45 KHK NM_000221.2(KHK): c.*52C> T single nucleotide variant Uncertain significance rs747976594 GRCh38 Chromosome 2, 27099802: 27099802
46 KHK NM_000221.2(KHK): c.*52C> T single nucleotide variant Uncertain significance rs747976594 GRCh37 Chromosome 2, 27322670: 27322670
47 KHK NM_000221.2(KHK): c.*200A> G single nucleotide variant Uncertain significance rs751205514 GRCh38 Chromosome 2, 27099950: 27099950
48 KHK NM_000221.2(KHK): c.*200A> G single nucleotide variant Uncertain significance rs751205514 GRCh37 Chromosome 2, 27322818: 27322818
49 KHK NM_000221.2(KHK): c.*326G> A single nucleotide variant Uncertain significance rs148558475 GRCh38 Chromosome 2, 27100076: 27100076
50 KHK NM_000221.2(KHK): c.*326G> A single nucleotide variant Uncertain significance rs148558475 GRCh37 Chromosome 2, 27322944: 27322944

Expression for Fructosuria, Essential

Search GEO for disease gene expression data for Fructosuria, Essential.

Pathways for Fructosuria, Essential

GO Terms for Fructosuria, Essential

Biological processes related to Fructosuria, Essential according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 8.62 CGREF1 EMILIN1

Sources for Fructosuria, Essential

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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